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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-151132921-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151132921&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEMA6C",
"hgnc_id": 10740,
"hgvs_c": "c.2452C>G",
"hgvs_p": "p.Pro818Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001178061.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0585,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07228338718414307,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": 2659,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_030913.6",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368914.8",
"protein_coding": true,
"protein_id": "NP_112175.2",
"strand": false,
"transcript": "NM_030913.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": 2659,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000368914.8",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030913.6",
"protein_coding": true,
"protein_id": "ENSP00000357910.3",
"strand": false,
"transcript": "ENST00000368914.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 962,
"aa_ref": "P",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 2581,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000368913.7",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2452C>G",
"hgvs_p": "p.Pro818Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357909.3",
"strand": false,
"transcript": "ENST00000368913.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5262,
"cdna_start": 4048,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000341697.7",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344148.3",
"strand": false,
"transcript": "ENST00000341697.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 922,
"aa_ref": "P",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2461,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2332,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000368912.7",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2332C>G",
"hgvs_p": "p.Pro778Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357908.3",
"strand": false,
"transcript": "ENST00000368912.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 975,
"aa_ref": "P",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2491,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967245.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2491C>G",
"hgvs_p": "p.Pro831Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637304.1",
"strand": false,
"transcript": "ENST00000967245.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 962,
"aa_ref": "P",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001178061.3",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2452C>G",
"hgvs_p": "p.Pro818Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171532.1",
"strand": false,
"transcript": "NM_001178061.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 962,
"aa_ref": "P",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 2756,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000866885.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2452C>G",
"hgvs_p": "p.Pro818Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536944.1",
"strand": false,
"transcript": "ENST00000866885.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4670,
"cdna_start": 3434,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000866869.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536928.1",
"strand": false,
"transcript": "ENST00000866869.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 3062,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000866870.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536929.1",
"strand": false,
"transcript": "ENST00000866870.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000866871.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536930.1",
"strand": false,
"transcript": "ENST00000866871.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000866875.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536934.1",
"strand": false,
"transcript": "ENST00000866875.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000866879.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536938.1",
"strand": false,
"transcript": "ENST00000866879.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5779,
"cdna_start": 4565,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000866880.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536939.1",
"strand": false,
"transcript": "ENST00000866880.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 930,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000866888.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536947.1",
"strand": false,
"transcript": "ENST00000866888.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 2835,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000927933.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597992.1",
"strand": false,
"transcript": "ENST00000927933.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000927935.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597994.1",
"strand": false,
"transcript": "ENST00000927935.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 930,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967242.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637301.1",
"strand": false,
"transcript": "ENST00000967242.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 929,
"aa_ref": "P",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 2790,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000927934.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2353C>G",
"hgvs_p": "p.Pro785Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597993.1",
"strand": false,
"transcript": "ENST00000927934.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 922,
"aa_ref": "P",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2332,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001178062.3",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.2332C>G",
"hgvs_p": "p.Pro778Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171533.1",
"strand": false,
"transcript": "NM_001178062.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 896,
"aa_ref": "P",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 2691,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
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